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Early developmental arrest and impaired gastrointestinal homeostasis in U12-dependent splicing-defective Rnpc3-deficient mice
Doggett, K.; Williams, B. B.; Markmiller, S.; Geng, F. S.; Coates, J.; Mieruszynski, S.; Ernst, M.; Thomas, T.; Heath, J. K.
RNA 24(12):1856-1870, 2019 10.1261/rna.068221.118
Disruption of beta cell acetyl-CoA carboxylase-1 in mice impairs insulin secretion and beta cell mass
Cantley, J.; Davenport, A.; Vetterli, L.; Nemes, N. J.; Whitworth, P. T.; Boslem, E.; Thai, L. M.; Mellett, N.; Meikle, P. J.; Hoehn, K. L.; James, D. E.; Biden, T. J.
DIABETOLOGIA 62(1):99-111, 2019 10.1007/s00125-018-4743-7
Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function, and EBV immunity
ESJ Edwards, J Bier, T Cole, M Wong, P Hsu, LJ Berglund, K Boztug, E Gostick, DA Price, M OaSullivan, I Meyts, S Choo, P Gray, SM Holland, EK Deenick, G Uzel, SG Tangye.
Journal of Allergy and Clinical Immunology-In Practice 143(1):276-291, 2019 https://doi.org/10.1016/j.jaci.2018.04.030
Comparison of 4 commercial kits for the extraction of circulating DNA from plasma
Warton, K.; Graham, L. J.; Yuwono, N.; Samimi, G.
Cancer Genetics 228-229:143-150, 2018 10.1016/j.cancergen.2018.02.004
Jak2V617F and Dnmt3a loss cooperate to induce myelofibrosis through activated enhancer-driven inflammation
Jacquelin, S.; Straube, J.; Cooper, L.; Vu, T.; Song, A.; Bywater, M.; Baxter, E.; Heidecker, M.; Wackrow, B.; Porter, A.; Ling, V.; Green, J.; Austin, R.; Kazakoff, S.; Waddell, N.; Hesson, L. B.; Pimanda, J. E.; Stegelmann, F.; Bullinger, L.; Dohner, K.; Rampal, R. K.; Heckl, D.; Hill, G. R.; Lane, S. W.
Blood 132(26):2707-2721, 2018 10.1182/blood-2018-04-846220
Human IFN-y immunity to mycobacteria is governed by both IL-12 and IL-23
Martinez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramirez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlan A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL.
Science Immunology 3(30) 2018 10.1126/sciimmunol.aau6759
Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations
Shadur, B.; Abuzaitoun, O.; NaserEddin, A.; Even-Or, E.; Zaidman, I.; Stepensky, P.
CLINICAL IMMUNOLOGY 198:39-45, 2018 10.1016/j.clim.2018.12.016
Deletion distal to the PAX6 coding region reveals a novel basis for familial cosegregation of aniridia and diabetes mellitus
Macdonald, G. C.; Hesselson, S. E.; Chan, J. Y.; Jenkins, A. B.; Laybutt, D. R.; Hesselson, D.; Campbell, L. V.
DIABETES RESEARCH AND CLINICAL PRACTICE 148:64-71, 2018 10.1016/j.diabres.2018.12.002
High diabetes prevalence and insulin medication errors in hospital patients
Joanne E. Taylor,1 Lesley V. Campbell,1,2,3,4 Lulu Zhang1 and Jerry R. Greenfield 1,2,3,4
INTERNAL MEDICINE JOURNAL 48(12):1529-1532, 2018 10.1111/imj.14124
Genetic effects of welding fumes on the progression of neurodegenerative diseases
Rana, H. K.; Akhtar, M. R.; Ahmed, M. B.; Lio, P.; Quinn, J. M. W.; Huq, F.; Moni, M. A.
NEUROTOXICOLOGY 71:93-101, 2018 10.1016/j.neuro.2018.12.002
CD44 orchestrates metastatic teamwork
Chaffer, C. L.; Goetz, J. G.
DEVELOPMENTAL CELL 47(6):691-693, 2018 10.1016/j.devcel.2018.11.038
The role of dietary phosphate restriction in chronic kidney disease
Elder, G. J.; Malik, A.; Lambert, K.
NEPHROLOGY 23(12):1107-1115, 2018 10.1111/nep.13188
Whole Genome Sequencing Reveals Elevated Tumor Mutational Burden and Initiating Driver Mutations in African Men with Treatment-Naive, High-Risk Prostate Cancer
Jaratlerdsiri, W.; Chan, E. K. F.; Gong, T.; Petersen, D. C.; Kalsbeek, A. M. F.; Venter, P. A.; Stricker, P. D.; Bornman, M. R.; Hayes, V. M.
CANCER RESEARCH 78:6736-6746, 2018 10.1158/0008-5472.CAN-18-0254
Amphioxus functional genomics and the origins of vertebrate gene regulation
Marletaz, F.; Firbas, P. N.; Maeso, I.; Tena, J. J.; Bogdanovic, O.; Perry, M.; Wyatt, C. D. R.; de la Calle-Mustienes, E.; Bertrand, S.; Burguera, D.; Acemel, R. D.; van Heeringen, S. J.; Naranjo, S.; Herrera-Ubeda, C.; Skvortsova, K.; Jimenez-Gancedo, S.; Aldea, D.; Marquez, Y.; Buono, L.; Kozmikova, I.; Permanyer, J.; Louis, A.; Albuixech-Crespo, B.; Le Petillon, Y.; Leon, A.; Subirana, L.; Balwierz, P. J.; Duckett, P. E.; Farahani, E.; Aury, J. M.; Mangenot, S.; Wincker, P.; Albalat, R.; Benito-Gutierrez, E.; Canestro, C.; Castro, F.; D'Aniello, S.; Ferrier, D. E. K.; Huang, S.; Laudet, V.; Marais, G. A. B.; Pontarotti, P.; Schubert, M.; Seitz, H.; Somorjai, I.; Takahashi, T.; Mirabeau, O.; Xu, A.; Yu, J. K.; Carninci, P.; Martinez-Morales, J. R.; Crollius, H. R.; Kozmik, Z.; Weirauch, M. T.; Garcia-Fernandez, J.; Lister, R.; Lenhard, B.; Holland, P. W. H.; Escriva, H.; Gomez-Skarmeta, J. L.; Irimia, M.
NATURE (564):64-70, 2018 10.1038/s41586-018-0734-6
Mother-child transmission of epigenetic information by tunable polymorphic imprinting
Carpenter, B. L.; Zhou, W.; Madaj, Z.; DeWitt, A. K.; Ross, J. P.; Gronbaek, K.; Liang, G.; Clark, S. J.; Molloy, P. L.; Jones, P. A.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA :1-8, 2018 10.1073/pnas.1815005115